Harlequin fetus born from Consanguinity: A deleterious case report

Abstract

Harlequin Ichthyosis (HI) is a dreadful skin disorder with steady rise of cases with prolonged survival. Harlequin fetus follows an autosomal recessive pattern with the incidence of 1in 300,000 live births. In the succeeding case report, a male child was born with keratinized and kaleidoscopic diamond pattern of skin suggestive of HI. He was born at 36th week of gestation from consanguineous marriage. The newborn remained under extensive intensive care in a tertiary care unit where he breathed his last on 11th day after birth. Prenatal diagnosis and genetic counseling is of vital importance due to the association of ABCA12 mutation with HI.
 doi: https://doi.org/10.12669/pjms.35.5.916
 How to cite this:Devnani J, Kumari U, Zil-e-Rubab. Harlequin fetus born from Consanguinity: A deleterious case report. Pak J Med Sci. 2019;35(5):---------. doi: https://doi.org/10.12669/pjms.35.5.916
 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

“…A total of 170 articles were included in the final review (alphabetically ordered based on author in Supplementary Table 2). 1,2,7–50,55,56,68–189 A PRISMA flow diagram is presented to track the process and number of studies included and excluded (Figure 1).…”

“…None of the 38 studies included in the rare disorders category identified the need for pre‐test genetic counselling only and 32 studies identified the need for post‐test genetic counselling only. Six out of 38 studies on rare disorders identified the need for both pre‐test and post‐test genetic counselling 7,11,128,137,174,180 …”

“…Six out of 38 studies on rare disorders identified the need for both pre-test and post-test genetic counselling. 7,11,128,137,174,180 Studies focusing on rare disorders had specific post-test genetic counselling considerations. When providing genetic consultation to families with infants or pediatric patients with rare disorders, genetic counselling is recommended to accompany early diagnosis.…”

“…118,164 Genetic counselling was important at both pre-test and post-test stages in order to effectively communicate possible causes and treatments, inform regarding future pregnancies, and provide comfort by showing empathy (due to difficulties in establishing a diagnosis, lack of treatment options, etc.). 137 Pre-test counselling was recommended for emotional support for caregivers while addressing issues pertaining to genetic testing, risks and benefits of the genetic testing process, and the possibility of incidental findings. 128 One study identified the need for genetic counsellors in obtaining consent and providing subsequent counselling.…”

“…Implica- Current data extracted from the databases and grey literature revealed only 6 out of 38 studies focusing on rare disorders discussed pre-test genetic counselling. 7,11,128,137,174,180 Pre-test genetic counselling is especially important as rare disorders are prone to uncertainty in multiple aspects, including variants of uncertain significance, potentially unavailable treatment, and comorbidities.…”